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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
Mondo Term and Equivalent IDs
MONDO:0013159:  muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
UMLS:C3150415: